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Itisha Arya

Is Huntington’s Disease Genetic? Here’s Everything You Should Know

huntington disease is genetic

Huntington’s disease (HD) is a condition that is hereditary and causes nerve cells in specific parts of the brain to slowly deteriorate and die. The disorder affects regions responsible for controlled and intentional movements, as well as those tied to mood, thinking, and personality. People with HD often develop jerky, dance-like body movements known as chorea, along with unusual postures and emotional or cognitive changes. For instance, they may experience sudden, uncontrollable motions in their hands, feet, face, or torso. These movements tend to worsen when the person feels anxious or distracted, and as the disease advances, they become more frequent and harder to manage.

<h2>Is Huntington’s Disease Genetic?</h2>According to the National Institute of Neurological Disorders, Huntington’s disease is passed down genetically from parent to child. It follows an autosomal dominant inheritance pattern, meaning that only one copy of the faulty gene is enough to cause the illness. If a parent carries the gene, every child has a 50 percent chance of inheriting it. As it is known to be dominant, just one altered gene from either parent can trigger the disease.

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The institute further explains that children who do not receive the mutated gene will never develop HD and cannot pass it on to their own children.

<h2>What Causes Huntington’s Disease?</h2>Huntington’s disease stems from a mutation in the HTT gene. This defect creates an abnormal stretch in the DNA sequence, called an expanded CAG repeat. The mutation leads to the production of a faulty version of the huntingtin protein, which contains an excessively long polyglutamine chain. 

Over time, this unstable protein builds up in the brain and damages nerve cells. As the mutation is inherited in an autosomal dominant pattern, one copy of the defective gene is enough to cause the disorder.

<h2>Huntington’s Disease Can Now Be Treated With <span rel="noindex">Gene Therapy</span></h2>A new gene therapy treatment has shown promise in slowing the course of Huntington’s disease, marking what could be the first meaningful advance against this inherited brain disorder. In a recent clinical trial involving 29 patients in the early stages of HD, those who received a single, high-dose infusion of the therapy directly into the brain experienced a 75 percent slower progression over three years compared with the control group.

The results, shared by the Amsterdam-based gene therapy company uniQure, were considered statistically significant across several clinical measures. Researchers also found lower levels of a harmful protein linked to brain cell damage in the spinal fluid of participants who received the treatment. Encouraged by these results, uniQure has announced plans to seek regulatory approval next year.

“This gene therapy represents a major step forward,” said Dr. Sandra Kostyk, a neurologist at Ohio State University Wexner Medical Center and one of the study’s investigators. “The data are encouraging.”

She added that while slowing the illness could mean more years of independence for patients, it is not a cure. Because of the small number of participants, more research and long-term follow-up are still needed.

Huntington’s Disease Symptoms You Need to Be Aware OfPeople with Huntington’s disease often lose control over their voluntary movements, which can affect daily functioning more severely than the involuntary jerks caused by chorea. Difficulties with voluntary movement can make it harder to work, communicate, and maintain independence.

According to the National Health Service, early signs may include trouble focusing or organizing tasks, forgetfulness, irritability, impulsive behavior, and changes in mood such as depression or anxiety. Other symptoms include small, uncontrollable jerks or twitches, clumsiness, and problems managing muscles.

Interestingly, symptoms can appear at any age but most often begin in a person’s 30s or 40s. When it develops before the age of 20, it is called juvenile Huntington’s disease. In such early-onset cases, symptoms may differ and the illness usually progresses more rapidly.

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Huntington’s disease (HD) is a condition that is hereditary and causes nerve cells in specific parts of the brain to slowly deteriorate and die. The disorder affects regions responsible for controlled and intentional movements, as well as those tied to mood, thinking, and personality. People with HD often develop jerky, dance-like body movements known as chorea, along with unusual postures and emotional or cognitive changes. For instance, they may experience sudden, uncontrollable motions in their hands, feet, face, or torso. These movements tend to worsen when the person feels anxious or distracted, and as the disease advances, they become more frequent and harder to manage.Is Huntington’s Disease Genetic?According to the National Institute of Neurological Disorders, Huntington’s disease is passed down genetically from parent to child. It follows an autosomal dominant inheritance pattern, meaning that only one copy of the faulty gene is enough to cause the illness. If a parent carries the gene, every child has a 50 percent chance of inheriting it. As it is known to be dominant, just one altered gene from either parent can trigger the disease.Also Read: Taking Amlodipine? NHS Issues Safety Warnings For Blood Pressure Patients, Here’s Why The institute further explains that children who do not receive the mutated gene will never develop HD and cannot pass it on to their own children.What Causes Huntington’s Disease?Huntington’s disease stems from a mutation in the HTT gene. This defect creates an abnormal stretch in the DNA sequence, called an expanded CAG repeat. The mutation leads to the production of a faulty version of the huntingtin protein, which contains an excessively long polyglutamine chain. Over time, this unstable protein builds up in the brain and damages nerve cells. As the mutation is inherited in an autosomal dominant pattern, one copy of the defective gene is enough to cause the disorder.Huntington’s Disease Can Now Be Treated With Gene TherapyA new gene therapy treatment has shown promise in slowing the course of Huntington’s disease, marking what could be the first meaningful advance against this inherited brain disorder. In a recent clinical trial involving 29 patients in the early stages of HD, those who received a single, high-dose infusion of the therapy directly into the brain experienced a 75 percent slower progression over three years compared with the control group.The results, shared by the Amsterdam-based gene therapy company uniQure, were considered statistically significant across several clinical measures. Researchers also found lower levels of a harmful protein linked to brain cell damage in the spinal fluid of participants who received the treatment. Encouraged by these results, uniQure has announced plans to seek regulatory approval next year.“This gene therapy represents a major step forward,” said Dr. Sandra Kostyk, a neurologist at Ohio State University Wexner Medical Center and one of the study’s investigators. “The data are encouraging.”She added that while slowing the illness could mean more years of independence for patients, it is not a cure. Because of the small number of participants, more research and long-term follow-up are still needed.Huntington’s Disease Symptoms You Need to Be Aware OfPeople with Huntington’s disease often lose control over their voluntary movements, which can affect daily functioning more severely than the involuntary jerks caused by chorea. Difficulties with voluntary movement can make it harder to work, communicate, and maintain independence.According to the National Health Service, early signs may include trouble focusing or organizing tasks, forgetfulness, irritability, impulsive behavior, and changes in mood such as depression or anxiety. Other symptoms include small, uncontrollable jerks or twitches, clumsiness, and problems managing muscles.Interestingly, symptoms can appear at any age but most often begin in a person’s 30s or 40s. When it develops before the age of 20, it is called juvenile Huntington’s disease. In such early-onset cases, symptoms may differ and the illness usually progresses more rapidly.

is huntington’s disease genetic? here’s everything you should know

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